Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.E747G
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CYLD

NM_001378743.1:p.E747G

Associated Papers

A computational approach for structural and functional analyses of disease-associated mutations in the human CYLD gene.

Roy AS et al.

Genomics & Informatics, 2024

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.

Tantcheva-Poór I et al.

Dermatology (basel, Switzerland), 2016

The cylindromatosis (CYLD) gene and head and neck tumorigenesis.

Verhoeft KR et al.

Cancers of the Head & Neck, 2016

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

Grossmann P et al.

The American Journal of Dermatopathology, 2013

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Rajan N et al.

Archives of Dermatology, 2009

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Blake PW et al.

Human Mutation, 2009

CYLD mutations in familial skin appendage tumours.

Saggar S et al.

Journal of Medical Genetics, 2008

Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity.

Almeida S et al.

The Journal of Investigative Dermatology, 2008

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.

Zhang G et al.

Experimental Dermatology, 2006

Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.

Oiso N et al.

The British Journal of Dermatology, 2004

A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.

Hu G et al.

The Journal of Investigative Dermatology, 2003

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